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Severe Paediatric Disorders

Gene: ATP1A1

Green List (high evidence)

ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000163399
EnsemblGeneIds (GRCh37): ENSG00000163399
OMIM: 182310, Gene2Phenotype
ATP1A1 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ATP1A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 (3) | Hypomagnesemia, seizures, and mental retardation 2, 618314 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
  • Hypomagnesemia, seizures, and mental retardation 2, 618314
OMIM
182310
Clinvar variants
Variants in ATP1A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ATP1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ATP1A1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Hypomagnesemia, seizures, and mental retardation 2, 618314 for gene: ATP1A1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Hypomagnesemia, seizures, and mental retardation 2, 618314 for gene: ATP1A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Hypomagnesemia, seizures, and mental retardation 2, 618314 for gene: ATP1A1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hypomagnesemia, seizures, and mental retardation 2, 618314; Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 for gene: ATP1A1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ATP1A1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ATP1A1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ATP1A1 was added gene: ATP1A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ATP1A1 was set to